Swallowing Function Evaluation in a Patient with Gerstmann-Sträussler-Scheinker Disease with Pro105Leu: A Case Report

Int J Environ Res Public Health. 2021 Sep 15;18(18):9734. doi: 10.3390/ijerph18189734.


Gerstmann-Sträussler-Scheinker disease (GSS) is a genetic prion disease. Swallowing function evaluation in patients with GSS remains unclear. Here, we describe a case of videofluoroscopic examination of swallowing (VF) to facilitate continued oral ingestion in a patient with P105L GSS. A 67-year-old woman developed gait disturbance and Parkinsonism symptoms at the age of 54 years. Since her family wanted her to continue oral ingestion, we performed VF, which revealed impairment and preservation of the oral and pharyngeal phases, respectively. Moreover, the impairment of the oral phase was improved by adjusting the patient's posture and food consistency. A swallowing function evaluation based on the condition of a patient with GSS may facilitate continued oral ingestion.

Keywords: Gerstmann-Sträussler-Scheinker disease; oral ingestion; swallowing function.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Deglutition
  • Female
  • Gerstmann-Straussler-Scheinker Disease*
  • Humans
  • Middle Aged
  • Prions*


  • Prions